Molecular Testing For Variants Associated With Hereditary Ovarian Cancer

It is estimated that approximately 20% of women presenting for assessment for hereditary ovarian cancer (OC) risk have a variant in a gene that increases the risk of cancer. BRIP1, RAD51C, RAD51D, NBN, and mismatch repair genes are estimated to contribute to 10% of hereditary OC cases. Approximately 60% of the familial relative risk in OC is unexplained. Risk for BRIP1, RAD51C, RAD51D, and NBN carriers is increased approximately 3- to 19-fold, 3- to 6-fold, 5- to 12-fold, and 2- to 3.5-fold respectively. Risk estimates may be higher in patients with a family history of OC or a family history of a specific gene variant. Germline genetic testing for BRCA1, BRCA2, and PALB2 is addressed separately in evidence review 11.003.030. Germline genetic testing for ATM is addressed separately in evidence review 11.003.027.